Variant report

Variant	rs11941870
Chromosome Location	chr4:99540996-99540997
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99540036..99541915-chr4:99662055..99663703,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10003932	0.86[JPT][hapmap]
rs10026666	0.86[JPT][hapmap]
rs10428298	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11097625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097626	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11937119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11938081	0.88[CEU][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11941880	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11946198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12501391	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12504979	0.84[ASN][1000 genomes]
rs12507537	0.92[EUR][1000 genomes]
rs12509046	0.80[CHB][hapmap];0.84[JPT][hapmap]
rs12509170	0.84[ASN][1000 genomes]
rs12512885	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2178216	0.93[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs2866015	0.80[CEU][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3941	0.89[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4699356	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4699661	0.80[CHB][hapmap];0.84[JPT][hapmap]
rs6532752	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532753	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6532754	0.81[CEU][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6819238	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6820406	0.86[JPT][hapmap]
rs6832517	0.96[CEU][hapmap];0.88[CHB][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6846265	0.85[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6848644	0.87[ASN][1000 genomes]
rs6852645	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7682381	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7700024	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7700032	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs883131	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs915879	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9684705	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9686007	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11941870	TSPAN5	cis	Muscle Skeletal	GTEx
rs11941870	RP11-1299A16.3	cis	Muscle Skeletal	GTEx

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99523000-99545000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:99527200-99541000	Weak transcription	NHLF	lung
3	chr4:99529600-99542400	Enhancers	Brain Cingulate Gyrus	brain
4	chr4:99529600-99543200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr4:99531000-99544200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr4:99531200-99541400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr4:99532600-99545400	Weak transcription	HMEC	breast
8	chr4:99534000-99541400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:99534200-99541400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:99534400-99541200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:99534400-99543200	Weak transcription	Thymus	Thymus
12	chr4:99534600-99541000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:99535000-99541400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr4:99535000-99541600	Enhancers	Ovary	ovary
15	chr4:99535200-99541200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr4:99535400-99541000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:99535400-99544200	Weak transcription	NHEK	skin
18	chr4:99535600-99541200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr4:99535600-99554200	Enhancers	Brain Substantia Nigra	brain
20	chr4:99536200-99545800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:99536400-99541000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:99536800-99541800	Enhancers	Fetal Brain Female	brain
23	chr4:99536800-99542400	Enhancers	Brain Angular Gyrus	brain
24	chr4:99537600-99544800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:99538000-99542200	Enhancers	Fetal Brain Male	brain
26	chr4:99538200-99541200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr4:99538200-99542600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:99538400-99541000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:99538400-99542000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:99538400-99542200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:99538400-99543800	Enhancers	Brain Anterior Caudate	brain
32	chr4:99539000-99541200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:99539000-99541200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr4:99539000-99541400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr4:99539000-99541400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:99539000-99541400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr4:99539000-99546400	Weak transcription	Fetal Thymus	thymus
38	chr4:99539000-99547200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:99539200-99541000	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr4:99539200-99541000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:99539200-99541200	Weak transcription	NH-A	brain
42	chr4:99539200-99541600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr4:99539200-99543400	Weak transcription	NHDF-Ad	bronchial
44	chr4:99539200-99544200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:99539200-99544200	Weak transcription	Osteobl	bone
46	chr4:99539200-99545400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr4:99539200-99546000	Weak transcription	Fetal Heart	heart
48	chr4:99539200-99546600	Weak transcription	HSMM	muscle
49	chr4:99539200-99547200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr4:99539200-99547200	Weak transcription	Right Atrium	heart

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